Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency

J Inherit Metab Dis. 1999 Oct;22(7):845-6. doi: 10.1023/a:1005522527689.
No abstract available

MeSH terms

  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency*
  • Lesch-Nyhan Syndrome / enzymology
  • Lesch-Nyhan Syndrome / genetics*
  • Mutation*

Substances

  • Hypoxanthine Phosphoribosyltransferase